Clinical and radiological assessment of rhinomaxillary syndrome in Hansen’s disease

Participants

Older persons (age 60+ years) affected by Hansen’s disease resident at the Hospital Colônia Pedro Fontes, Espírito Santo, Brazil, were invited to participate when they required medical assessment as part of routine care between September 2015 and December 2016. Demographic data and medical history were obtained by interview and from medical records. All participants received general medical, dermatological and otorhinolaryngological examinations.

Computed tomography imaging

Participants attended the Radiology and Computed Tomography Service at Hospital Universitário Cassiano Antônio Moraes, Espírito Santo, Brazil, for computed tomography scans of the head. Images were acquired in a 64-section multidetector computed tomography scanner (Aquilion, Toshiba Medical Systems Corp., Tochigi, Japan) with parameters 120 kVp, 100 mAs, 1.125 mm spiral pitch factor. Field of view was limited to the maxillofacial area. Three-dimensional reconstructions and cephalometrics were generated from volumetric data by DePuy Synthes TRUMATCH CMF Solutions (DePuy Synthes Inc., PA 19380, USA). Cephalometrics comprised maxillary height and width, nasofrontal angle, ANS angle (A=A point, N=nasion and S=Sella turcica mid-point) and maxillary volume measured at Le Fort 1 level.

Rhinomaxillary syndrome

Rhinomaxillary syndrome is defined by changes to: (I) anterior nasal spine; (II) alveolar processes of maxilla; (III) nasal surface of the palatine process of the maxilla; (IV) oral surface of the palatine process of the maxilla; (V) nasal turbinates and septum; (VI) pyriform aperture and (VII) posterior alveolar margins of the maxilla.¹¹ To identify rhinomaxillary syndrome from computed tomography images, we combined criteria III and IV because both sides of the hard palate can be examined in physical remains but not in computed tomography images. To criteria VI, we added resorption of the nasal bones which are part of the pyriform aperture but usually absent from paleopathological specimens. Abnormalities were graded as “severe” or “mild to moderate” [Figure 1]. Full or partial radiological rhinomaxillary syndrome was based on assessment of the number and severity of alterations. “Fully met” required severe resorption of anterior nasal spine (criterion I) and severe loss of sharpness of pyriform aperture and/or resorption of nasal bones (criterion VI) plus at least one of the other criteria rated severe and one rated mild to moderate. Partial radiological rhinomaxillary syndrome typically required two–three severe plus two–three mild-to-moderate bone alterations. Computed tomography images were examined independently and in parallel by two radiologists.

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Figure 1:

Grading by computed tomography imaging of maxillofacial bone alterations in rhinomaxillary syndrome

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Clinical rhinomaxillary syndrome

Assessment of clinical manifestation of rhinomaxillary syndrome was based on clinical rhinomaxillary syndrome criteria comprising four facial profile alterations: (1) saddle nose, characterized by loss of nasal dorsal height and shortened length of nose, due to cartilaginous and/or bone collapse; (2) concave middle third of the face with sunken (retracted) nose, caused by erosion of the zygomatic process and enlargement and loss of the pyriform shape of the nasal aperture; (3) reduced maxillary projection (maxillary retrognathia/reduced ANS) and (4) inverted upper lip because of reduced maxillary height.¹³ Alterations were scored: saddle nose (no = 0, mild = 1, moderate = 2 and severe = 3); concave middle third of face with sunken nose (no = 0, either = 1 and both = 2); maxillary retrognathia (reduced ANS) (no = 0 and yes = 1) and inverted upper lip (no = 0 and yes = 1). The sum of scores was categorized: normal = 0, mild = 1, moderate = 2–4 and substantial (clinical rhinomaxillary syndrome) = 5–7.

Ethical Approval

This study was approved by the Research Ethics Committee of the Health Sciences Center of the Federal University of Espírito Santo (no. 4.248.419, August 31, 2020). Informed consent including for use of images was obtained from all participants.

Participants

Sixteen former Hansen’s disease patients participated (ten females and six males) with median age 70 (range 60–89) years, age at diagnosis 20 (6–43) years and time since diagnosis 46 (26–70) years. Original Hansen’s disease diagnosis by Madrid Classification was the “lepromatous” form in 13 patients, “borderline” in two and “tuberculoid” in one patient [Table 1]. Most patients had received two–three courses of dapsone monotherapy during the 1960s to 1980s; seven had received multidrug therapy (dapsone, rifampicin and clofazimine). Type 1 and 2 reactions before, during or after Hansen’s disease treatment were recorded for ten patients.

Maxillofacial bone changes

All participants had alterations to the alveolar process of maxilla to varying degrees (eight severe and eight mild to moderate) [Table 2]. The second most frequent alteration was resorption of the anterior nasal spine, observed in 12/16 participants (six severe). Resorption of nasal bones was observed in ten/16 participants (five severe), loss of sharpness of the pyriform aperture in ten/16 (five severe) and atrophy of the inferior and middle nasal turbinates in eight/16 (one severe) and seven/16 (two severe). Three participants had severe perforation of the nasal septum and eight had thinning of the hard palate with bony discontinuities [Table 2]. None had perforated palate.

Clinical rhinomaxillary syndrome and radiological rhinomaxillary syndrome

Four participants (P1, P2, P7 and P8) fully met the criteria for radiological rhinomaxillary syndrome [Table 2], all of whom had facial profile changes which met criteria for clinical rhinomaxillary syndrome [Table 3]. Four participants (P9, P11, P13 and P15) had partial radiological rhinomaxillary syndrome, of whom three had moderate and one had mild facial profile changes. Three cases (P1, P7 and P8) with bone alterations meeting criteria for full radiological rhinomaxillary syndrome are illustrated in Figures 2-4, together with one case (P10) with bone alterations which did not meet radiological rhinomaxillary syndrome criteria [Figure 5]. Cephalometrics for P1, P7, P8 and P10 are reported in Table 4.

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Figure 2a:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: frontal facial aspect showing facial profile changes comprising severe saddle nose which was sunken in concave middle third of face and maxillary retrognathia with inverted upper lip, meeting clinical rhinomaxillary syndrome criteria

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Figure 2b:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: coronal computed tomography image showing atrophy of the middle and inferior nasal turbinates (long arrows), a large perforation in the nasal septum (star), thinning of the hard palate with focal discontinuities (short arrows), as well as thickening and sclerosis of zygomatic and frontal bones, consistent with osteitis (arrowheads)

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Figure 2c:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (anterior view) showing loss of sharpness of the pyriform aperture, deformity and resorption of the nasal bones (arrow) and marked, crescentic resorption of the central part of the alveolar process of the maxilla (arrowhead)

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Figure 2d:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: lateral facial aspect showing substantial facial profile changes including severe saddle nose

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Figure 2e:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: sagittal computed tomography image showing marked resorption of the anterior nasal spine (arrowhead) and a large perforation in the nasal septum (star)

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Figure 2f:

Patient (P1), male, age 87, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (lateral view) showing marked resorption of the anterior nasal spine (arrowhead) and nasal bones (arrow), as well loss of sharpness of the pyriform aperture (dashed line)

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Figure 3a:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: frontal facial aspect showing facial profile changes including moderate saddle nose which was sunken in concave middle third of face, and maxillary retrognathia with inverted upper lip, meeting clinical rhinomaxillary syndrome criteria

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Figure 3b:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: coronal computed tomography image showing resorption of the middle and inferior nasal turbinates (arrows) and a large perforation in the nasal septum (star)

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Figure 3c:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (anterior view) showing resorption of the nasal bones (arrow) and alveolar process of the maxilla (arrowhead)

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Figure 3d:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: lateral facial aspect showing substantial facial profile changes including a sunken and folded nose

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Figure 3e:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: sagittal computed tomography image showing marked resorption of the anterior nasal spine (arrowhead) and a large perforation in the nasal septum (star)

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Figure 3f:

Patient (P7) female, age 77, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (lateral view) showing marked resorption of the anterior nasal spine (arrowhead), resorption of the nasal bones (arrow) and loss of sharpness of the pyriform aperture (dashed line)

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Figure 4a:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: frontal facial aspect showing facial profile changes including moderate saddle nose which was sunken in concave middle third of face, and maxillary retrognathia with inverted upper lip, meeting clinical rhinomaxillary syndrome criteria

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Figure 4b:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: coronal computed tomography image showing variable atrophy of the middle and inferior nasal turbinates (arrows)

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Figure 4c:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (anterior view) showing resorption of the nasal bones (arrow) and alveolar process of the maxilla (arrowhead)

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Figure 4d:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: lateral facial aspect showing substantial facial profile changes including a sunken and folded nose

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Figure 4e:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: sagittal computed tomography image showing marked resorption of the anterior nasal spine (arrowhead) and a perforation in the nasal septum (star)

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Figure 4f:

Patient (P8) male, age 76, with full rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (lateral view) showing marked resorption of the anterior nasal spine (arrowhead) and nasal bones (arrow), as well loss of sharpness of the pyriform aperture (dashed line)

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Figure 5a:

Patient (P10) female, age 79, without rhinomaxillary syndrome: frontal facial aspect showing normal facial profile

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Figure 5b:

Patient (P10) female, age 79, without rhinomaxillary syndrome: coronal computed tomography image showing normal middle and inferior nasal turbinates (arrows)

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Figure 5c:

Patient (P10) female, age 79, without rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (anterior view) showing resorption of the nasal bones (arrow) and the anterior region of the alveolar process of the maxilla (arrowhead)

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Figure 5d:

Patient (P10) female, age 79, without rhinomaxillary syndrome: lateral facial aspect showing normal facial profile

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Figure 5e:

Patient (P10) female, age 79, without rhinomaxillary syndrome: sagittal computed tomography image showing marked resorption of the anterior nasal spine (arrowhead) and no perforation in the nasal septum

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Figure 5f:

Patient (P10) female, age 79, without rhinomaxillary syndrome: three-dimensional reconstruction computed tomography image (lateral view) showing marked resorption of the anterior nasal spine (arrowhead), resorption of the nasal bones (arrow) and loss of sharpness of the pyriform aperture (dashed line)

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Strengths and weaknesses

A limitation of our study is the lack of a control group to differentiate age-related changes to the maxilla. However, Kasai et al. reported that Hansen’s disease-related changes occur predominantly in the median frontal part with characteristic interruption of the U-shaped process, as we also observed in our participants, compared with the typical horizontal and vertical age-related atrophy of the maxillary alveolar processes.¹⁴ Furthermore, reported evidence of substantial age-related maxillary bone loss is limited, although some may be secondary to poor nutrition, loss of teeth (all participants had a partially or completely edentulous maxilla) and changes in mechanical function.¹⁵ In our cases of full and partial rhinomaxillary syndrome, maxillofacial bone changes were consistent with those considered to be pathognomonic of Hansen’s disease.⁸

We had incomplete clinical histories for some participants because records were lost over time. Resorption and atrophy of nasal bones can be a consequence of trauma which may not have been recorded in medical histories. Similarly, we did not have complete records to support our assessment of differential diagnoses such as syphilis and mucocutaneous leishmaniasis,¹¹ and less common rhinological diseases such as granulomatosis with polyangiitis and nasal extranodal lymphoma.¹⁶ Although two researchers assessed and graded facial changes independently, this remains a subjective process, and our clinical rhinomaxillary syndrome criteria require validation.